Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891651T>C , CM000664.2:g.72891651T>C | GRCh38 |
| NC_000002.11:g.73118780T>C , CM000664.1:g.73118780T>C | GRCh37 |
| NC_000002.10:g.72972288T>C | NCBI36 |
| NG_008234.1:g.9269T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*114T>C MANE Select | ENSP00000234454.5:n.*114T>C | |
| ENST00000234454.5:c.*114T>C | ENSP00000234454.5:n.*114T>C | |
| ENST00000498749.1:n.845T>C | ||
| NM_003124.4:c.*114T>C | NP_003115.1:n.*114T>C | |
| NM_003124.5:c.*114T>C MANE Select | NP_003115.1:n.*114T>C |